M. Raducu

Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease

A. Hernández-Laín, J. Cruces, R. Simón, 2014, Journal of child neurology.

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O

J. Baets, J. Cruces, R. Coster, 2012, European Journal of Human Genetics.

SCF (Fbxl17) ubiquitylation of Sufu regulates Hedgehog signaling and medulloblastoma development

L. Di Marcotullio, N. Sibson, S. Serres, 2016, The EMBO journal.

O-Mannose and O-N-acetyl galactosamine glycosylation of mammalian α-dystroglycan is conserved in a region-specific manner.

G. Larson, Alejandro Gómez Toledo, J. Nilsson, 2012, Glycobiology.

A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker‐Warburg syndrome in two Spanish Gypsy families

J. Cruces, F. Mateos, A. Cabello, 2009, Clinical genetics.